gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43198817 (AFR)
Genomes Max Group AF
0.43198817 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29510044G>T , CM000668.2:g.29510044G>T | GRCh38 |
| NC_000006.11:g.29477821G>T , CM000668.1:g.29477821G>T | GRCh37 |
| NC_000006.10:g.29585800G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_926678.1:n.666-224G>T | ||
| XR_926679.1:n.591-224G>T | ||
| XR_926679.2:n.623-224G>T |